ClinVar Miner

Submissions for variant NM_001386298.1(CIC):c.5314C>G (p.Arg1772Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004821446 SCV005442680 uncertain significance Intellectual disability, autosomal dominant 45 criteria provided, single submitter clinical testing The missense c.5314C>Gp.Arg1772Gly variant in CIC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg1772Gly variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Computational evidence Polyphen - Possibly damaging, SIFT -Tolerated and MutationTaster -Disease causing predicts conflicting evidence on protein structure and function for this variant. The reference amino acid at this position in CIC is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Arg at position 1772 is changed to a Gly changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance VUS.

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